The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.

doi:10.1164/rccm.201904-0769OC

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Article

The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.

American journal of respiratory and critical care medicine - 1 Mar 2020

Ortega Victor E, Li Xingnan, O'Neal Wanda K, Lackey Lela, Ampleford Elizabeth, Hawkins Gregory A, Grayeski Philip J, Laederach Alain, Barjaktarevic Igor, Barr R Graham, Cooper Christopher, Couper David, Han MeiLan K, Kanner Richard E, Kleerup Eric C, Martinez Fernando J, Paine Robert, Peters Stephen P, Pirozzi Cheryl, Rennard Stephen I, Woodruff Prescott G, Hoffman Eric A, Meyers Deborah A, Bleecker Eugene R

Abstract excerpt

Rationale: The role of PI (protease inhibitor) type Z heterozygotes and additional rare variant genotypes in the gene encoding alpha-1 antitrypsin, SERPINA1 (serpin peptidase inhibitor, clade A, member 1), in determining chronic obstructive pulmonary disease risk and severity is controversial.Objectives: To comprehensively evaluate the effects of rare SERPINA1 variants on lung function and emphysema phenotypes in...

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PMID: 31661293
DOI: 10.1164/rccm.201904-0769OC
PMCID: PMC7047460

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